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Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Weisschuh, Nicole; Mazzola, Pascale; Bertrand, Miriam; Haack, Tobias B; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina.
Afiliação
  • Weisschuh N; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72070 Tübingen, Germany.
  • Mazzola P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72070 Tübingen, Germany.
  • Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72070 Tübingen, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72070 Tübingen, Germany.
  • Wissinger B; Centre for Rare Diseases, University of Tübingen, 72070 Tübingen, Germany.
  • Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72070 Tübingen, Germany.
  • Stingl K; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72070 Tübingen, Germany.
Int J Mol Sci ; 22(10)2021 May 20.
Article em En | MEDLINE | ID: mdl-34065499
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Íntrons / Splicing de RNA / Proteínas de Ciclo Celular / Sítios de Splice de RNA / Distrofia de Cones / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Íntrons / Splicing de RNA / Proteínas de Ciclo Celular / Sítios de Splice de RNA / Distrofia de Cones / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article